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    FANCC FA complementation group C [ Homo sapiens (human) ]

    Gene ID: 2176, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

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    GeneRIFPubMed TitleDate
    In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.

    In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.
    Shahid M, Azfaralariff A, Zubair M, Abdulkareem Najm A, Khalili N, Law D, Firasat S, Fazry S.

    		01/15/2022
    Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

    Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
    Ewing AD, Cheetham SW, McGill JJ, Sharkey M, Walker R, West JA, West MJ, Summers KM., Free PMC Article

    		01/8/2022
    Zika virus depletes neural stem cells and evades selective autophagy by suppressing the Fanconi anemia protein FANCC.

    Zika virus depletes neural stem cells and evades selective autophagy by suppressing the Fanconi anemia protein FANCC.
    Tiwari SK, Dang JW, Lin N, Qin Y, Wang S, Rana TM., Free PMC Article

    		05/1/2021
    Two truncating variants in FANCC and breast cancer risk.

    Two truncating variants in FANCC and breast cancer risk.
    Dörk T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Freeman LEB, Beckmann MW, Beeghly-Fadiel A, Behrens S, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Burwinkel B, Canzian F, Chan TL, Chang-Claude J, Chanock SJ, Choi JY, Christiansen H, Clarke CL, Couch FJ, Czene K, Daly MB, Dos-Santos-Silva I, Dwek M, Eccles DM, Ekici AB, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Gao C, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Goldberg MS, Goldgar DE, Guénel P, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Hartman M, Hauke J, Hein A, Hillemanns P, Hogervorst FBL, Hooning MJ, Hopper JL, Howell T, Huo D, Ito H, Iwasaki M, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Kang D, Kapoor PM, Khusnutdinova E, Kim SW, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kwong A, Lambrechts D, Marchand LL, Li J, Lindström S, Linet M, Lo WY, Long J, Lophatananon A, Lubiński J, Manoochehri M, Manoukian S, Margolin S, Martinez E, Matsuo K, Mavroudis D, Meindl A, Menon U, Milne RL, Mohd Taib NA, Muir K, Mulligan AM, Neuhausen SL, Nevanlinna H, Neven P, Newman WG, Offit K, Olopade OI, Olshan AF, Olson JE, Olsson H, Park SK, Park-Simon TW, Peto J, Plaseska-Karanfilska D, Pohl-Rescigno E, Presneau N, Rack B, Radice P, Rashid MU, Rennert G, Rennert HS, Romero A, Ruebner M, Saloustros E, Schmidt MK, Schmutzler RK, Schneider MO, Schoemaker MJ, Scott C, Shen CY, Shu XO, Simard J, Slager S, Smichkoska S, Southey MC, Spinelli JJ, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teo SH, Terry MB, Toland AE, Tollenaar RAEM, Torres D, Torres-Mejía G, Troester MA, Truong T, Tsugane S, Untch M, Vachon CM, Ouweland AMWVD, Veen EMV, Vijai J, Wendt C, Wolk A, Yu JC, Zheng W, Ziogas A, Ziv E, ABCTB Investigators, NBCS Collaborators, Dunning AM, Pharoah PDP, Schindler D, Devilee P, Easton DF., Free PMC Article

    		11/21/2020
    This study showed that featured-metabolic alterations are readouts of functional mechanisms underlying reduced tumorigenicity driven by FANCC, demonstrating close links among cancer, aging, inflammation and DM.

    Fanconi Anemia complementation group C protein in metabolic disorders.
    Nepal M, Ma C, Xie G, Jia W, Fei P., Free PMC Article

    		10/5/2019
    The splice-site mutation in the FANCC gene (IVS4+4A>T) accounts for most cases of Fanconi anaemia in Ashkenazi Jewish cohorts worldwide.A founder mutation described in individuals of Ashkenazi Jewish ancestry is also found in South African individuals of this origin.

    Fanconi anaemia in South Africa: Past, present and future.
    Feben C, Wainstein T, Kromberg J, Essop F, Krause A.

    		07/20/2019
    mutation IVS4+4A>T is the most prevalent mutation in our group of patients. This analysis of Pakistani patients also suggests that there is no significant difference between IVS4+4A>T homozygotes and the rest of the patients with regard to severity of clinical phenotype.

    Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.
    Aftab I, Iram S, Khaliq S, Israr M, Ali N, Jahan S, Hussain S, Khaliq S, Mohsin S.

    		12/29/2018
    The finding that FANCC overexpression reduced betacell apoptosis advances the potential for an alternative approach to the treatment of Diabetes mellitus caused by FANCC defects

    Fanconi anemia complementation group C protection against oxidative stress‑induced β‑cell apoptosis.
    Kulanuwat S, Jungtrakoon P, Tangjittipokin W, Yenchitsomanus PT, Plengvidhya N.

    		11/3/2018
    Lung adenocarcinomas in both male and female patients were associated with (a) genotypic polymorphisms of FANCC and FANCD1.

    Fanconi anemia genes in lung adenocarcinoma- a pathway-wide study on cancer susceptibility.
    Yang SY, Hsiung CN, Li YJ, Chang GC, Tsai YH, Chen KY, Huang MS, Su WC, Chen YM, Hsiung CA, Yang PC, Chen CJ, Wu PE, Yu JC, Shen CY, Hsu HM., Free PMC Article

    		10/22/2016
    Israeli ATM, BLM, and FANCC heterozygous mutation carriers are not at an increased risk for developing cancer.

    The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.
    Laitman Y, Boker-Keinan L, Berkenstadt M, Liphsitz I, Weissglas-Volkov D, Ries-Levavi L, Sarouk I, Pras E, Friedman E.

    		07/30/2016
    FANCC interacts and co-localizes with STMN1 at centrosomes during mitosis. We also showed that FANCC is required for STMN1 phosphorylation.

    The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation.
    Magron A, Elowe S, Carreau M., Free PMC Article

    		06/11/2016
    FANCC interferes with UNC5A's functions in apoptosis and suggest that FANCC may participate in developmental processes through association with the dependence receptor UNC5A.

    The Fanconi anemia group C protein interacts with uncoordinated 5A and delays apoptosis.
    Huang F, Ben Aissa M, Magron A, Huard CC, Godin C, Lévesque G, Carreau M., Free PMC Article

    		12/26/2015
    The successful in vitro repair of the mutated Fanconi anemia FANCC gene using the CRISPR/Cas9 system has been described.

    Fanconi anemia gene editing by the CRISPR/Cas9 system.
    Osborn MJ, Gabriel R, Webber BR, DeFeo AP, McElroy AN, Jarjour J, Starker CG, Wagner JE, Joung JK, Voytas DF, von Kalle C, Schmidt M, Blazar BR, Tolar J., Free PMC Article

    		10/24/2015
    Data indicate that TLR-induced IL-1beta overproduction in FANCA- and FANCC-deficient mononuclear phagocyte cell lines and primary cells requires activation of the inflammasome.

    FANCA and FANCC modulate TLR and p38 MAPK-dependent expression of IL-1β in macrophages.
    Garbati MR, Hays LE, Keeble W, Yates JE, Rathbun RK, Bagby GC., Free PMC Article

    		12/28/2013
    deregulations of the FANCC-mediated DNA damage repair pathway and the PTCH1-associated sonic hedgehog pathway are associated with the development of early dysplastic head and neck lesions.

    Association of FANCC and PTCH1 with the development of early dysplastic lesions of the head and neck.
    Ghosh A, Ghosh S, Maiti GP, Mukherjee S, Mukherjee N, Chakraborty J, Roy A, Roychoudhury S, Panda CK.

    		02/9/2013
    we identified faults in two genes, Fanconi C and Bloom helicase( FANCC and BLM), in six families. Faults in these genes appear to increase the risk of developing breast cancer

    Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
    Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H, kConFab, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG., Free PMC Article

    		01/5/2013
    FANCC polymorphisms might be associated with the obstructive symptoms in allergic diseases.

    Association of FANCC polymorphisms with FEV1 decline in aspirin exacerbated respiratory disease.
    Kim JH, Park BL, Pasaje CF, Bae JS, Park JS, Park SW, Uh ST, Choi JS, Kim YH, Kim MK, Choi IS, Cho SH, Choi BW, Park CS, Shin HD.

    		05/26/2012
    FA DNA repair genes, FANCD2, FANCL, and FANCC, are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer

    Upregulation of Fanconi anemia DNA repair genes in melanoma compared with non-melanoma skin cancer.
    Kao WH, Riker AI, Kushwaha DS, Ng K, Enkemann SA, Jove R, Buettner R, Zinn PO, Sánchez NP, Villa JL, D'Andrea AD, Sánchez JL, Kennedy RD, Chen CC, Matta JL., Free PMC Article

    		11/26/2011
    genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population.

    Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility.
    Juko-Pecirep I, Ivansson EL, Gyllensten UB.

    		09/24/2011
    Cytoplasmic FANCA-FANCC complex was essential for NPMc stability.

    Cytoplasmic FANCA-FANCC complex interacts and stabilizes the cytoplasm-dislocalized leukemic nucleophosmin protein (NPMc).
    Du W, Li J, Sipple J, Chen J, Pang Q., Free PMC Article

    		01/1/2011
    Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in Fanconi anemia patients and is enhanced by delivery of suppressor U1 snRNAs.

    Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.
    Hartmann L, Neveling K, Borkens S, Schneider H, Freund M, Grassman E, Theiss S, Wawer A, Burdach S, Auerbach AD, Schindler D, Hanenberg H, Schaal H., Free PMC Article

    		10/30/2010
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    		09/15/2010
    we identified a hepatocellular carcinoma cell line harboring an inactivating mutation of the FANCC gene, specifically causing proximal FA pathway inactivation and the classic cellular DNA interstrand-crosslinking agents-hypersensitivity phenotype

    Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents.
    Palagyi A, Neveling K, Plinninger U, Ziesch A, Targosz BS, Denk GU, Ochs S, Rizzani A, Meier D, Thasler WE, Hanenberg H, De Toni EN, Bassermann F, Schäfer C, Göke B, Schindler D, Gallmeier E., Free PMC Article

    		08/2/2010
    study found genetic interaction between Fanconi anemia(FA)gene FANCC and Ku70; results indicate FA pathway promotes homologous recombination repair of DNA double-strand breaks (DSBs) by counteracting Ku70; suggest this achieved by modification of DSBs

    Ku70 corrupts DNA repair in the absence of the Fanconi anemia pathway.
    Pace P, Mosedale G, Hodskinson MR, Rosado IV, Sivasubramaniam M, Patel KJ.

    		08/2/2010
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)See all PubMed (2) articles

    Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
    Monsees GM, Kraft P, Chanock SJ, Hunter DJ, Han J.

    Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.
    Loizidou MA, Cariolou MA, Neuhausen SL, Newbold RF, Bashiardes E, Marcou Y, Michael T, Daniel M, Kakouri E, Papadopoulos P, Malas S, Hadjisavvas A, Kyriacou K.

    		06/30/2010
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